Abstract
Extract: Leukocyte glutaminase I activity was studied in 17 patients with lysinuric protein intolerance (LPI, familial protein intolerance) and 21 controls. The values were logarithmically distributed, the mean (95% confidence interval) being 9.1 (1.5–54.3) for the patients and 15.4 (2.3–104.4) for the controls, in nanomoles of ammonia per 106 leukocytes and 30 min. The difference is significant at P < 0.05. Only two of the LPI patients had a value below the range of the controls, and five others actually had a value above the mean of the controls.
Liver glutaminase I activity was measured in two of the LPI patients and in seven controls. The activity found in the patients was clearly higher than in the controls. We have disproved the speculation of a deficiency of liver glutaminase in LPI, as a basic derangement in LPI, common to bot$ basic chemical disturbances of LPI, the renal leakage of basic amino acids and the delayed urea synthesis.
Speculation: Patients with LPI have decreased plasma levels of arginine, ornithine, and lysine. Arginine and ornithine supplement accelerates their slow urea synthesis. The possibility that this deficiency of arginine and ornithine is further exaggereated through a defect of their transport to the site of urea production in the parenchymal cells of liver is currently under investigation.
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Simell, O., Perheentupa, J. & Visakorpi, J. Leukocyte and Liver Glutaminase in Lysinuric Protein Intolerance. Pediatr Res 6, 797–801 (1972). https://doi.org/10.1203/00006450-197210000-00008
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DOI: https://doi.org/10.1203/00006450-197210000-00008